Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
BRCA2 p.Ser1982ArgfsTer22 (p.S1982Rfs*22) ( ENST00000700202.2, ENST00000713678.1, ENST00000713680.1, ENST00000530893.7, ENST00000544455.6, ENST00000380152.8 )
BRCA2 p.Ser1982ArgfsTer22 (p.S1982Rfs*22) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
Associated Disease
Pancreatic cancer, susceptibility to, 2
Source Database
DisGeNET
Description
NA
Original source reporting the Gene Disease association
CLINVAR
DisGENET score for the Gene Disease association
0.12
Year of publication
NA
Drugs